Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353481_69353482delinsTC , CM000674.2:g.69353481_69353482delinsTC | GRCh38 |
| NC_000012.11:g.69747261_69747262delinsTC , CM000674.1:g.69747261_69747262delinsTC | GRCh37 |
| NC_000012.10:g.68033528_68033529delinsTC | NCBI36 |
| NG_008195.1:g.10128_10129delinsTC , LRG_768:g.10128_10129delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*262_*263delinsTC MANE Select | ENSP00000261267.2:n.*262_*263delinsTC | |
| ENST00000261267.6:c.*262_*263delinsTC | ENSP00000261267.2:n.*262_*263delinsTC | |
| ENST00000549690.1:c.*216_*217delinsTC | ENSP00000449898.1:n.*216_*217delinsTC | |
| NM_000239.2:c.*262_*263delinsTC , LRG_768t1:c.*262_*263delinsTC | NP_000230.1:n.*262_*263delinsTC | |
| NM_000239.3:c.*262_*263delinsTC MANE Select | NP_000230.1:n.*262_*263delinsTC |